Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	Mandibuloacral dysplasia with type A lipodystrophy
Synonyms	MADA
ID	http://www.orpha.net/ORDO/Orphanet_90153
alternative_term	MADA
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=90153
hasDbXref	MeSH:C535705 OMIM:248370 ICD-10:Q87.5 UMLS:C5399785 ICD-11:LD27.6Z
label	Mandibuloacral dysplasia with type A lipodystrophy
notation	ORPHA:90153 Clinical subtype
part_of	http://www.orpha.net/ORDO/Orphanet_300763 http://www.orpha.net/ORDO/Orphanet_2457
prefixIRI	ORDO:Orphanet_90153
prefLabel	Mandibuloacral dysplasia with type A lipodystrophy
treeView	http://www.orpha.net/ORDO/Orphanet_300763 http://www.orpha.net/ORDO/Orphanet_2457
subClassOf	http://www.orpha.net/ORDO/Orphanet_557494

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_90153	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_90153	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009557	MONDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C123417	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123417	NCIT	LOOM
http://purl.bioontology.org/ontology/OMIM/248370	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535705	RH-MESH	LOOM
http://identifiers.org/omim/248370	REXO	LOOM
http://identifiers.org/omim/248370	GEXO	LOOM
http://identifiers.org/omim/248370	RETO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1003431005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/OMIM_248370	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C535705	MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11984	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009557	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009557	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009557	DOVES	LOOM